A ring chromosome (No. 18) in a cyclops

Cohen, Maimon M.; Storm, D. F.; Capraro, Vincent J.

doi:10.1111/j.1399-0004.1972.tb04272.x

Cited by 21 publications

(3 citation statements)

References 15 publications

(11 reference statements)

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“…Although some fetuses had >1 malformation within the same litter, it is not known whether the combination of holoprosencephaly with anencephaly or holoprosencephaly with encephalocele was present in the same animal (DeMyer, personal communication, 1978). The combination of human cyclopia and encephalocele with ring 18 chromosome was reported by Cohen et al (1972). Cohen and Lemire (1982) noted an instance of cyclopia with encephalocele in the goat.…”

Section: Central Nervous Systemmentioning

confidence: 71%

Holoprosencephaly: Clinical, anatomic, and molecular dimensions

Cohen

2006

Birth Defects Research

191

192

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Holoprosencephaly is addressed under the following headings: alobar, semilobar, and lobar holoprosencephaly; arrhinencephaly; agenesis of the corpus callosum; pituitary abnormalities; hindbrain abnormalities; syntelencephaly; aprosencephaly/atelencephaly; neural tube defects; facial anomalies; median cleft lip; minor facial anomalies; single maxillary central incisor; holoprosencephaly-like phenotype; epidemiology; genetic causes of holoprosencephaly; teratogenic causes of holoprosencephaly; SHH mutations; ZIC2 mutations; SIX3 mutations; TGIF mutations; PTCH mutations; GLI2 mutations; FAST1 mutations; TDGF1 mutations; and DHCR7 mutations.

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Section: Central Nervous Systemmentioning

confidence: 71%

Holoprosencephaly: Clinical, anatomic, and molecular dimensions

Cohen

2006

Birth Defects Research

191

192

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“…Association of cyclopia with chromosomal anomalies, other than trisomy D, have been reported, such as chromosomal mosaicism (Cohen 1966), partial 18 monosomy (Nitowsky et al 1966), ring chromosome 18 (Cohen et al 1972), and mosaicism of the G-group chromosomes (Cohen 1966).…”

Section: Discussionmentioning

confidence: 99%

Partial trisomy 13 in a case of Cyclopia with 13/14 translocation

et al. 1974

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An infant with median facio‐cerebral dysplasia and a nose‐like tubular appendage (Cyclopia) is reported. Cytogenetic study of this case reveals a partial trisomy of chromosome 13 via the long arms of 13/14 translocation chromosome. This particular arrangement of the partial trisomy is clearly identified by the new quinacrine fluorescence and trypsin banding techniques. Cytogenetic analysis of the parents revealed normal chromosomal complements.

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“…Therefore, there is little information about the life and health of these mothers. There are five reports in the literature of infants with Ring 18 who died within the first few months of life from major cardiac malformations or holoprosencephaly (Cohen et al 1972;Watanabe et al 1971;Yanoff et al 1970;Yardin et al 2001). The one interesting case is a mother with Ring 18 who was not reported as having mosaicism (Christensen et al 1970).…”

Section: Tetrasomy 18pmentioning

confidence: 99%

Adults with Chromosome 18 Abnormalities

Soileau

Hasi

Sebold

et al. 2014

Journal of Genetic Counseling

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The identification of an underlying chromosome abnormality frequently marks the endpoint of a diagnostic odyssey. However, families are frequently left with more questions than answers as they consider their child's future. In the case of rare chromosome conditions, a lack of longitudinal data often makes it difficult to provide anticipatory guidance to these families. The objective of this study is to describe the lifespan, educational attainment, living situation, and behavioral phenotype of adults with chromosome 18 abnormalities. The Chromosome 18 Clinical Research Center has enrolled 483 individuals with one of the following conditions: 18q-, 18p-, Tetrasomy 18p, and Ring 18. As a part of the ongoing longitudinal study, we collect data on living arrangements, educational level attained, and employment status as well as data on executive functioning and behavioral skills on an annual basis. Within our cohort, 28 of the 483 participants have died, the majority of whom have deletions encompassing the TCF4 gene or who have unbalanced rearrangement involving other chromosomes. Data regarding the cause of and age at death are presented. We also report on the living situation, educational attainment, and behavioral phenotype of the 151 participants over the age of 18. In general, educational level is higher for people with all these conditions than implied by the early literature, including some that received post-high school education. In addition, some individuals are able to live independently, though at this point they represent a minority of patients. Data on executive function and behavioral phenotype are also presented. Taken together, these data provide insight into the long-term outcome for individuals with a chromosome 18 condition. This information is critical in counseling families on the range of potential outcomes for their child.

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A ring chromosome (No. 18) in a cyclops

Cited by 21 publications

References 15 publications

Holoprosencephaly: Clinical, anatomic, and molecular dimensions

Holoprosencephaly: Clinical, anatomic, and molecular dimensions

Partial trisomy 13 in a case of Cyclopia with 13/14 translocation

Adults with Chromosome 18 Abnormalities

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